SMAD9, SMAD family member 9, 4093

N. diseases: 43; N. variants: 10
Disease: Familial primary pulmonary hypertension ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.630 GeneticVariation disease BEFREE Here, we tested ataluren in lung- or blood-derived cells from patients with HPAH with nonsense mutations in BMPR2 (n = 6) or SMAD9 (n = 1). 23590310 2013
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.630 GeneticVariation disease BEFREE Mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene, the activin receptor-like kinase 1 (ALK1) gene, and SMAD8 gene have been reported in heritable pulmonary arterial hypertension (HPAH) and in idiopathic pulmonary arterial hypertension (IPAH). 22374147 2012
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.630 Biomarker disease GENOMICS_ENGLAND Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.630 Biomarker disease BEFREE Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. 21920918 2011
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.630 Biomarker disease CTD_human
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.630 GermlineCausalMutation disease ORPHANET Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. 21920918 2011